Submissions for variant NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)

dbSNP: rs1057519045

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000415507	SCV000328401	likely pathogenic	Crouzon syndrome	2016-09-17	criteria provided, single submitter	clinical testing
Database of Curated Mutations (DoCM)	RCV000432507	SCV000505190	likely pathogenic	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	2014-12-26	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000425472	SCV000506403	likely pathogenic	Nasopharyngeal neoplasm	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000435736	SCV000506404	likely pathogenic	Malignant neoplasm of body of uterus	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000418082	SCV000506405	likely pathogenic	Breast neoplasm	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000428300	SCV000506406	likely pathogenic	Lung adenocarcinoma	2016-05-31	no assertion criteria provided	literature only
OSU Cancer Genomics Laboratory, Ohio State University Medical Center	RCV000786040	SCV000914229	drug response	Pemigatinib resistance	2019-05-17	no assertion criteria provided	research	The Asn549His variant in FGFR2 was detected following 5 months of Pemigatinib therapy. In vitro functional studies also showed resistance to Pemigatinib.